疣状表皮发育不良一家系EVER1及EVER2基因突变的研究

A Mutation in EVER1 and EVER2 gene in a pedigree with Epidermodysplasia Verruciformis

目的筛查疣状表皮发育不良家系EVER1及EVER2的基因突变。方法采集1个来自福建霞浦3代发病的疣状表皮不良家系23名成员的外周静脉血样,提取基因组DNA,通过http://www.ncbi.nlm.nih.gov/及http://www.genome.uscs.edu/遗传学数据库查找EVER1及EVER2基因组序列;应用Primer 3.0设计特异性引物对EVER1及EVER2基因的36个外显子进行PCR扩增;产物纯化及DNA测序;对测序结果使用Chromas2.0软件进行分析,确定有无突变及突变位点。结果该家系23位成员的EVER1及EVER2基因的所有36个外显子均未发现突变。结论该疣状表皮发育不良家系的EVER1及EVER2基因的所有外显子未发生突变,提示疣状表皮发育不良易感基因存在遗传学异质性。

Objective To analyse the mutation of EVER1 and EVER2 gene in a pedigree with Epidermodysplasia Verru- ciformis. Methods Blood samples were obtained from 1 affected and 23 individuls in this Fujian family. Mutation scanning was carried out by PCR and direct sequening use http： //www. ncbi. nlm. nih. gov/and http： //www. genome, uscs. edu/; the appli- cation Primer 3.0 specific primers were designed EVER1 and EVE2 gene 36 exon PCR amplification; Chromas 2.0 software a- nalysis to determine the presence or absence of mutations and mutation sites. Results The pedigree of 23 members EVER1 and EVER2 genes of all 36 exons were not found mutaiton. Conclusion EVER1 and EVER2 of the epidermodysplasia verruciformis pedigree gene all exons are not mutation , suggesting epidermodysplasia verruciformis susceptibility genes exist genetics hetero- geneity.